HGVS | Genome Assembly |
---|---|
NC_000024.10:g.19004472G>T , CM000686.2:g.19004472G>T | GRCh38 |
NC_000024.9:g.21166358G>T , CM000686.1:g.21166358G>T | GRCh37 |
NC_000024.8:g.19625746G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
NR_125733.1:n.578+64252C>A | ||
NR_125734.1:n.578+64252C>A | ||
NR_125735.1:n.503+72573C>A | ||
NR_125736.1:n.138+64252C>A | ||
NR_125737.1:n.138+64252C>A | ||
NR_001543.4:n.504-71631C>A | ||
NR_125737.2:n.138+64252C>A | ||
NR_158640.1:n.152+69027C>A | ||
NR_158641.1:n.368+40070C>A |